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Q96ST8

- CEP89_HUMAN

UniProt

Q96ST8 - CEP89_HUMAN

Protein

Centrosomal protein of 89 kDa

Gene

CEP89

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 90 (01 Oct 2014)
      Sequence version 3 (18 May 2010)
      Previous versions | rss
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    Functioni

    Required for ciliogenesis. Also plays a role in mitochondrial metabolism where it may modulate complex IV activity.2 Publications

    GO - Biological processi

    1. cilium assembly Source: UniProtKB

    Keywords - Biological processi

    Cilium biogenesis/degradation

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Centrosomal protein of 89 kDa
    Short name:
    Cep89
    Alternative name(s):
    Centrosomal protein 123
    Short name:
    Cep123
    Coiled-coil domain-containing protein 123
    Gene namesi
    Name:CEP89
    Synonyms:CCDC123
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:25907. CEP89.

    Subcellular locationi

    Cytoplasmcytosol. Cytoplasmcytoskeletonmicrotubule organizing centercentrosome. Cytoplasmcytoskeletonspindle pole. Cytoplasmcytoskeletonmicrotubule organizing centercentrosomecentriole. Mitochondrion intermembrane space
    Note: Localizes to the distal appendage region of the centriole, which anchors the mother centriole to the plasma membrane.

    GO - Cellular componenti

    1. centriole Source: UniProtKB
    2. centrosome Source: UniProtKB
    3. ciliary transition fiber Source: MGI
    4. cytoplasm Source: HPA
    5. cytosol Source: UniProtKB-SubCell
    6. mitochondrial intermembrane space Source: UniProtKB-SubCell
    7. plasma membrane Source: HPA
    8. spindle pole Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Cytoskeleton, Mitochondrion

    Pathology & Biotechi

    Involvement in diseasei

    Homozygous deletion comprising CEP89 and SLC7A9 genes has been reported in a patient with isolated complex IV deficiency, intellectual disability and multisystemic problems that include cystinuria, cataract, broad based walking pattern and deafness.1 Publication

    Organism-specific databases

    Orphaneti254905. Isolated cytochrome C oxidase deficiency.
    PharmGKBiPA147358250.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 783783Centrosomal protein of 89 kDaPRO_0000288809Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei50 – 501Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ96ST8.
    PaxDbiQ96ST8.
    PRIDEiQ96ST8.

    PTM databases

    PhosphoSiteiQ96ST8.

    Expressioni

    Gene expression databases

    ArrayExpressiQ96ST8.
    BgeeiQ96ST8.
    CleanExiHS_CCDC123.
    GenevestigatoriQ96ST8.

    Organism-specific databases

    HPAiHPA039382.
    HPA040056.

    Interactioni

    Protein-protein interaction databases

    BioGridi124342. 2 interactions.
    DIPiDIP-47325N.
    IntActiQ96ST8. 4 interactions.
    STRINGi9606.ENSP00000306105.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96ST8.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili234 – 333100Sequence AnalysisAdd
    BLAST
    Coiled coili369 – 719351Sequence AnalysisAdd
    BLAST

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG75458.
    HOGENOMiHOG000111383.
    HOVERGENiHBG075238.
    InParanoidiQ96ST8.
    KOiK16543.
    OMAiPSPDITG.
    OrthoDBiEOG7XM30C.
    PhylomeDBiQ96ST8.
    TreeFamiTF329234.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96ST8-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MLLGFRRGRR SHFKHIIHGL LPAASVAPKA AVPRTPPPRS PNPSPERPRS    50
    ALAAAILATT LTGRTVAIPQ PRQRSRSESD VSSVEQDSFI EPYATTSQLR 100
    PRPNWQSEMG RRSSLPSFET LDYGDEEDIE TQLSSSGKEL GDVSAREDRG 150
    GHSDDLYAVP HRNQVPLLHE VNSEDDENIS HQDGFPGSPP APQRTQQKDG 200
    KHPVLNLKDE KPPLCEKPPP SPDITGRARQ RYTEITREKF EALKEENMDL 250
    NNMNQSLTLE LNTMKQAMKE LQLKLKGMEK EKRKLKEAEK ASSQEVAAPE 300
    LLYLRKQAQE LVDENDGLKM TVHRLNVELS RYQTKFRHLS KEESLNIEGL 350
    PSKGPIPPWL LDIKYLSPLL LAYEDMMKEK DELNATLKEE MRMFRMRVQE 400
    VVKENEELHQ ELNKSSAVTS EEWRQLQTQA KLVLEENKLL LEQLEIQQRK 450
    AKDSHQERLQ EVSKLTKQLM LLEAKTHGQE KELAENREQL EILRAKCQEL 500
    KTHSDGKIAV EVHKSIVNEL KSQLQKEEEK ERAEMEELME KLTVLQAQKK 550
    SLLLEKNSLT EQNKALEAEL ERAQKINRKS QKKIEVLKKQ VEKAMGNEMS 600
    AHQYLANLVG LAENITQERD SLMCLAKCLE SEKDGVLNKV IKSNIRLGKL 650
    EEKVKGYKKQ AALKLGDISH RLLEQQEDFA GKTAQYRQEM RHLHQVLKDK 700
    QEVLDQALQQ NREMEGELEV IWESTFRENR RIRELLQDTL TRTGVQDNPR 750
    ALVAPSLNGV SQADLLDGCD VCSYDLKSHA PTC 783
    Length:783
    Mass (Da):89,590
    Last modified:May 18, 2010 - v3
    Checksum:i7EE45B222951CED0
    GO
    Isoform 2 (identifier: Q96ST8-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-247: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:536
    Mass (Da):62,126
    Checksum:i3E3D037CC5C62FCF
    GO
    Isoform 3 (identifier: Q96ST8-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         344-356: SLNIEGLPSKGPI → VTFPIVKISFSDF
         357-782: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:357
    Mass (Da):40,338
    Checksum:iB54BFDAC136EA215
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti194 – 1941R → W.
    Corresponds to variant rs3764633 [ dbSNP | Ensembl ].
    VAR_063122
    Natural varianti398 – 3981V → A.2 Publications
    Corresponds to variant rs4805825 [ dbSNP | Ensembl ].
    VAR_063123

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 247247Missing in isoform 2. 1 PublicationVSP_039181Add
    BLAST
    Alternative sequencei344 – 35613SLNIE…SKGPI → VTFPIVKISFSDF in isoform 3. 1 PublicationVSP_039182Add
    BLAST
    Alternative sequencei357 – 782426Missing in isoform 3. 1 PublicationVSP_039183Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK027546 mRNA. Translation: BAB55190.1.
    AC008805 Genomic DNA. No translation available.
    AC119048 Genomic DNA. No translation available.
    AC011449 Genomic DNA. No translation available.
    BC032307 mRNA. Translation: AAH32307.1.
    BC136328 mRNA. Translation: AAI36329.1.
    CCDSiCCDS32987.1. [Q96ST8-1]
    RefSeqiNP_116205.3. NM_032816.3. [Q96ST8-1]
    XP_005259402.1. XM_005259345.1. [Q96ST8-2]
    UniGeneiHs.599703.

    Genome annotation databases

    EnsembliENST00000305768; ENSP00000306105; ENSG00000121289. [Q96ST8-1]
    ENST00000590597; ENSP00000466442; ENSG00000121289.
    GeneIDi84902.
    KEGGihsa:84902.
    UCSCiuc002ntx.3. human. [Q96ST8-1]
    uc002nua.3. human. [Q96ST8-3]

    Polymorphism databases

    DMDMi296439414.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK027546 mRNA. Translation: BAB55190.1 .
    AC008805 Genomic DNA. No translation available.
    AC119048 Genomic DNA. No translation available.
    AC011449 Genomic DNA. No translation available.
    BC032307 mRNA. Translation: AAH32307.1 .
    BC136328 mRNA. Translation: AAI36329.1 .
    CCDSi CCDS32987.1. [Q96ST8-1 ]
    RefSeqi NP_116205.3. NM_032816.3. [Q96ST8-1 ]
    XP_005259402.1. XM_005259345.1. [Q96ST8-2 ]
    UniGenei Hs.599703.

    3D structure databases

    ProteinModelPortali Q96ST8.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124342. 2 interactions.
    DIPi DIP-47325N.
    IntActi Q96ST8. 4 interactions.
    STRINGi 9606.ENSP00000306105.

    PTM databases

    PhosphoSitei Q96ST8.

    Polymorphism databases

    DMDMi 296439414.

    Proteomic databases

    MaxQBi Q96ST8.
    PaxDbi Q96ST8.
    PRIDEi Q96ST8.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000305768 ; ENSP00000306105 ; ENSG00000121289 . [Q96ST8-1 ]
    ENST00000590597 ; ENSP00000466442 ; ENSG00000121289 .
    GeneIDi 84902.
    KEGGi hsa:84902.
    UCSCi uc002ntx.3. human. [Q96ST8-1 ]
    uc002nua.3. human. [Q96ST8-3 ]

    Organism-specific databases

    CTDi 84902.
    GeneCardsi GC19M033370.
    H-InvDB HIX0022917.
    HGNCi HGNC:25907. CEP89.
    HPAi HPA039382.
    HPA040056.
    MIMi 615470. gene.
    neXtProti NX_Q96ST8.
    Orphaneti 254905. Isolated cytochrome C oxidase deficiency.
    PharmGKBi PA147358250.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG75458.
    HOGENOMi HOG000111383.
    HOVERGENi HBG075238.
    InParanoidi Q96ST8.
    KOi K16543.
    OMAi PSPDITG.
    OrthoDBi EOG7XM30C.
    PhylomeDBi Q96ST8.
    TreeFami TF329234.

    Miscellaneous databases

    GenomeRNAii 84902.
    NextBioi 75272.
    PROi Q96ST8.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96ST8.
    Bgeei Q96ST8.
    CleanExi HS_CCDC123.
    Genevestigatori Q96ST8.

    Family and domain databases

    ProtoNeti Search...

    Publicationsi

    1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT ALA-398.
    2. "The DNA sequence and biology of human chromosome 19."
      Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
      , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
      Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), VARIANT ALA-398.
      Tissue: Brain and Colon.
    4. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-50, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    5. "Assessing the localization of centrosomal proteins by PALM/STORM nanoscopy."
      Sillibourne J.E., Specht C.G., Izeddin I., Hurbain I., Tran P., Triller A., Darzacq X., Dahan M., Bornens M.
      Cytoskeleton 68:619-627(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    6. "Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods."
      Jakobsen L., Vanselow K., Skogs M., Toyoda Y., Lundberg E., Poser I., Falkenby L.G., Bennetzen M., Westendorf J., Nigg E.A., Uhlen M., Hyman A.A., Andersen J.S.
      EMBO J. 30:1520-1535(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY, SUBCELLULAR LOCATION.
    7. "Centriole distal appendages promote membrane docking, leading to cilia initiation."
      Tanos B.E., Yang H.J., Soni R., Wang W.J., Macaluso F.P., Asara J.M., Tsou M.F.
      Genes Dev. 27:163-168(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION.
    8. Cited for: FUNCTION, SUBCELLULAR LOCATION, DISEASE.

    Entry informationi

    Entry nameiCEP89_HUMAN
    AccessioniPrimary (citable) accession number: Q96ST8
    Secondary accession number(s): B9EGA6, Q8N5J8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 29, 2007
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 90 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 19
      Human chromosome 19: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

    External Data

    Dasty 3